SPTLC2 gene related symptoms and diseases
All the information presented here about the SPTLC2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SPTLC2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Abnormal autonomic nervous system physiology | Very Common - Between 80% and 100% cases |
| Peripheral neuropathy | Very Common - Between 80% and 100% cases |
| Distal sensory loss of all modalities | Very Common - Between 80% and 100% cases |
| Distal muscle weakness | Very Common - Between 80% and 100% cases |
| Peripheral axonal neuropathy | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with SPTLC2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Distal sensory impairment
- Sensory neuropathy
- Gait disturbance
- Osteomyelitis
- Muscle weakness
- Anhidrosis
Not very common - Between 30% and 50% cases
- Restless legs
- Brisk reflexes
And 56 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SPTLC2 gene
Here you will find a list of rare diseases related to the SPTLC2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 1
Alternate names
HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 1 Is also known as hereditary sensory and autonomic neuropathy type i, hsan1, hsan ia, hsn ia, neuropathy, hereditary sensory, type ia, hsn1a, neuropathy, hereditary sensory radicular, autosomal dominant, type 1a
Description
Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset.
Most common symptoms of HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 1
- Intellectual disability
- Generalized hypotonia
- Hearing impairment
- Microcephaly
- Nystagmus
More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 1
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC; HSAN1C
Alternate names
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC; HSAN1C Is also known as neuropathy, hereditary sensory, type ic, hsn1c, hsn ic, hsan ic
Most common symptoms of NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC; HSAN1C
- Seizures
- Scoliosis
- Muscle weakness
- Peripheral neuropathy
- Hyperreflexia
More info about NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC; HSAN1C
SOURCES: OMIM
Search interest in SPTLC2
Potential gene panels for SPTLC2 gene
MitoMet®Plus aCGH Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panel United States.
SPTLC2 DNA Sequencing Test Panel
United States.
By Athena Diagnostics Inc
This panel specifically test the SPTLC2 gene.
More info about this panel United States.
Late Onset Hereditary Sensory and Autonomic Neuropathy (HSAN) Evaluation Panel
United States.
By Athena Diagnostics Inc Late Onset Hereditary Sensory and Autonomic Neuropathy (HSAN) Evaluation that also includes the following genes: SPTLC1 SPTLC2
More info about this panel United States.
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel that also includes the following genes: SBF1 SCN9A SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2 TFG YARS PRX
More info about this panel United States.
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing that also includes the following genes: SBF1 SCN9A SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2 TFG YARS PRX
More info about this panel United States.
SPTLC2. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SPTLC2 gene.
More info about this panel Spain.
Hereditary Sensory and Autonomic Neuropathy Type IC (sequence analysis of SPTLC2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SPTLC2 gene.
More info about this panel Portugal.
Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes) Panel
Portugal.
By CGC Genetics Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes) that also includes the following genes: SBF1 SCN11A SCN9A DST SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2 TWNK
More info about this panel Portugal.
Hereditary Sensory and Autonomic Neuropathy Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hereditary Sensory and Autonomic Neuropathy Sequencing Panel with CNV Detection that also includes the following genes: SCN11A SCN9A DST ATL1 SPTLC1 SPTLC2 PRDM12 WNK1 CCT5 CLTCL1
More info about this panel United States.
Comprehensive Neuropathy Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Comprehensive Neuropathy Sequencing Panel with CNV Detection that also includes the following genes: SBF1 SCN9A SLC12A6 ATL1 SPTLC1 SPTLC2 TFG TTR YARS PRX
More info about this panel United States.
Neuropathy Panel
Germany.
By MGZ Medical Genetics Center Neuropathy that also includes the following genes: SACS SCN10A SCN11A SCN9A SH3BP4 SLC12A6 SOD1 SPG11 ATL1 SPAST
More info about this panel Germany.
Hereditary Sensory and Autonomic Neuropathy Type IC Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the SPTLC2 gene.
More info about this panel Germany.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
Charcot-Marie-Tooth and Sensory Neuropathies Panel Panel
Germany.
By CeGaT GmbH Charcot-Marie-Tooth and Sensory Neuropathies Panel that also includes the following genes: SBF1 SCN10A SCN11A SCN9A DST SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2
More info about this panel Germany.
Charcot-Marie-Tooth Disease Panel
Estonia.
By Asper Biogene Asper Biogene LLC Charcot-Marie-Tooth Disease that also includes the following genes: SBF1 SCN9A SPTLC1 SPTLC2 SURF1 TFG VCP YARS PRX SLC5A7
More info about this panel Estonia.
Invitae Comprehensive Neuropathies Panel Panel
United States.
By Invitae Invitae Comprehensive Neuropathies Panel that also includes the following genes: SCN11A SCN9A DST SPG11 ATL1 SPTLC1 SPTLC2 TFG TTR UBA1
More info about this panel United States.
Invitae Hereditary Sensory and Autonomic Neuropathy Panel Panel
United States.
By Invitae Invitae Hereditary Sensory and Autonomic Neuropathy Panel that also includes the following genes: SCN11A SCN9A DST ATL1 SPTLC1 SPTLC2 WNK1 ATL3 RETREG1 DNMT1
More info about this panel United States.
Hereditary Neuropathies: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Neuropathies: Sequencing Panel that also includes the following genes: SACS SCN9A SLC12A6 SLC1A3 SPG11 ATL1 SPAST SPG7 SPTBN2 SPTLC1
More info about this panel United States.
Hereditary Neuropathies: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Neuropathies: Deletion/Duplication Panel that also includes the following genes: SACS SCN9A SLC12A6 SLC1A3 SPG11 ATL1 SPAST SPG7 SPTBN2 SPTLC1
More info about this panel United States.
Hereditary Neuropathies NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Hereditary Neuropathies NGS Panel that also includes the following genes: SCN9A ATL1 SPTLC2 TTR YARS PRX GDAP1 KIF1B LITAF MFN2
More info about this panel United States.
Nuclear-Mito NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7
More info about this panel United States.
Charcot Marie Tooth Disease Extended NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Charcot Marie Tooth Disease Extended NGS Panel that also includes the following genes: SCN9A SLC12A6 ATL1 SPTLC1 SPTLC2 TTR PRX WNK1 BSCL2 GDAP1
More info about this panel United States.
SPTLC2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SPTLC2 gene.
More info about this panel United States.
Charcot-Marie-Tooth Neuropathy Panel Panel
Finland.
By Blueprint Genetics Charcot-Marie-Tooth Neuropathy Panel that also includes the following genes: SACS SBF1 SCN11A SCN9A DST SLC12A6 SPG11 ATL1 SPTLC1 SPTLC2
More info about this panel Finland.
Hereditary sensory and autonomic neuropathy type 1C Panel
Spain.
By Bioarray
This panel specifically test the SPTLC2 gene.
More info about this panel Spain.
HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 1 Panel
Spain.
By Laboratorio de Genetica Clinica SL HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 1 that also includes the following genes: SPTLC1 SPTLC2
More info about this panel Spain.
Hereditary Sensory and Autonomic Neuropathy Type IC , Sequencing SPTLC2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the SPTLC2 gene.
More info about this panel Spain.
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